ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.346-17C>T

gnomAD frequency: 0.00092  dbSNP: rs370498369
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080270 SCV000112165 uncertain significance not provided 2013-08-01 criteria provided, single submitter clinical testing
Invitae RCV002055163 SCV002408285 benign Qualitative or quantitative defects of dysferlin 2024-01-17 criteria provided, single submitter clinical testing

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